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rs1057516133

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 5 Familial Hypercholesterolemia
Make rs1057516133(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105276
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516133
dbSNP (old)rs1057516133
ClinGenrs1057516133
ebirs1057516133
HLIrs1057516133
Exacrs1057516133
Gnomadrs1057516133
Varsomers1057516133
Maprs1057516133
PheGenIrs1057516133
Biobankrs1057516133
1000 genomesrs1057516133
hgdprs1057516133
ensemblrs1057516133
gopubmedrs1057516133
geneviewrs1057516133
scholarrs1057516133
googlers1057516133
pharmgkbrs1057516133
gwascentralrs1057516133
openSNPrs1057516133
23andMers1057516133
23andMe allrs1057516133
SNPshotrs1057516133
SNPdbers1057516133
MSV3drs1057516133
GWAS Ctlgrs1057516133
Max Magnitude5
ClinVar
Risk rs1057516133(C;C)
Alt rs1057516133(C;C)
Reference Rs1057516133(-;-)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215952dupC
CLNSRC
CLNACC RCV000408817.1,